Neurofibromatosis Type 1 Molecular and Cellular Biology
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as c
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Meena Upadhyaya • David N. Cooper Editors
Neurofibromatosis Type 1 Molecular and Cellular Biology
Editors Meena Upadhyaya David N. Cooper Institute of Medical Genetics School of Medicine Cardiff University Cardiff, United Kingdom
ISBN 978-3-642-32863-3 ISBN 978-3-642-32864-0 (eBook) DOI 10.1007/978-3-642-32864-0 Springer Heidelberg New York Dordrecht London Library of Congress Control Number: 2012954937 # Springer-Verlag Berlin Heidelberg 2012 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
To Lara Devi
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Foreword
This book marks a true “coming of age” for our understanding of neurofibromatosis. It is 130 years since the disorder was first accurately described, but only the last 30 of these years have seen real progress in our understanding of this common and important disorder. This 30-year period is exactly divided by the Editors’ first book in 1998 (Neurofibromatosis Type 1: From Genotype to Phenotype BIOS Scientific Publishers), itself a landmark that showed how the advent of molecular genetics had not only defined the gene involved, but had also begun to point the way to the understanding of its function in the disorder and in the normal state. This second book by Meena Upadhyaya and David Cooper shows us how this new understanding has blossomed
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